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Athena #784 ASPM DNA Seq
Test Code784
CPT Codes
81407(1)
Preferred Specimen
whole Blood
Minimum Volume
10 mL
Transport Container
lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
DNA Sequencing
Report Available
28 days
Reference Range
No sequence alteration detected in ASPM gene
Clinical Significance
"Type of Disorder: Intellectual disability
Typical Presentation: Occipito-frontal head circumference 2 or more SD below age/sex/ethnicity matched means at birth, without other dysmorphic features or malformations in other organ systems
Disease(s) tested for: Primary Microcephaly
Detects mutations in ASPM gene"
Typical Presentation: Occipito-frontal head circumference 2 or more SD below age/sex/ethnicity matched means at birth, without other dysmorphic features or malformations in other organ systems
Disease(s) tested for: Primary Microcephaly
Detects mutations in ASPM gene"
